Ptáček is a leader in the field of human neurogenetics and leads a Division of Neurogenetics within the Department of Neurology. His group began work years ago to characterize a large group of episodic disorders that have come to be known as the "channelopathie." More recently, he and a colleague described a Mendelian variant of circadian behavior in humans called familial advanced sleep-phase syndrome (FASPS).

His productive collaboration with Professor Ying-Hui Fu, the other visiting lecturer from the University of California, San Fancisco, has resulted in the identification and characterization of numerous genes causing muscle disease, epilepsy, movement disorders and FASPS. Their work has always begun by studying families with neurological phenotypes but has translated into biological characterization of the encoded proteins and modeling of genetic variants in other organisms.

Fu will deliver a scientific lecture Tuesday, April 10 on "Molecular Characterization of Human Sleep Variants" at noon in 101 Stafford Hall. Recently, new genes and mutations were identified in Fu's lab that can affect human sleep quantity. Much of this work has moved from gene/mutation identification to in vitro studies and in vivo modeling of the mutant phenotypes in flies, fish, and mice.